Term
| Bruton's AGammaGlobulinemia (XLA) |
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Definition
| No Serum Ig's, Infections with Gram+ Encapsulated Bacteria begin at 6-9 months of age, Infection with Sterptococcus and Haemophilus strains common. X Linked. Pre B Cell Devo Inhibited. |
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Term
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Definition
| Most Common Immunodeficiency, most people are asymptomatic, can cause gastrointestinal and respiratory infections, familial associations, can treat with IgA infusions. |
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Term
| Common Variable Immunodeficiency (CVID) |
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Definition
| Family of diseases hallmarked by low IgG, IgA, and IgM without corresponding decreases in T or B cells. Cellular Immunity is weakened, Pneumonia, Sinusitis, GI infections. Late onset - 15-35 y/o. Susceptibility linked to region in MHC Class II locus. |
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Term
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Definition
severe resp. infections, sinusitis, Serum IgG and IgA LOW, Serum IgM High as the name indicates. No Class switching. Cell-mediated immunity is defective, malformed germinal centers.
Type I X linked, CD40L absent on T Cells
Type 2 Aut Rec. AICD defect NEUTROPENIA
Type 3 Aut. Red CD 40 absent on B cells. NEUTROPENIA |
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Term
| DiGeorge's Syndrome - We better see this in clinic one day |
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Definition
| Heart and Thymus Defects. T cell numbers low and mostly gamma/delta T cell, B cells present but function is absent. Lots of Opportunistic Infections. Caused by deletion in Chromosome 22 - usually NOT INHERITED. |
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Term
| Severe Combined Immunodeficiency (SCID) |
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Definition
T cell Negative! Severe! Life Threatening infections.
Mutant Il-2Rgamma Chain.
Can be caused by muts in:
T cell signalling (CD3, JAK3, CD45)
Health of T cell (IL7Ralpha, IL2Ralpha)
Devo of T cell (Rag1,Rag2, Artemis, MHCI, MHCII)
Nucleotide Toxicity (NP and ADA) |
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Term
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Definition
T+B-NK+
Non-Diverse Repertoire of TCRs. Lots of self reactive TCRs leading to Autoimmune Diseases.
Eosinophilia, and IgE elevated. Failure to thrive. |
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Term
| Wiskott-Aldrich Syndrome (WAS) |
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Definition
WAS Protein (WASP) is activated by ZAP-70 and helps form Immunological Synapse - absent in WAS. Prone to thrombocytopenia
X Linked
Thrombocytopenia
IgM reduced
IgA and E elevated. |
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Term
| Chronic Granulomatous Disease |
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Definition
Either X linked or Autosomal Recessive.
High WBC count but not intracellular killing.
Usually defect in NADPH Oxidase (for X linked)
Diagnose via DHR Assay (Dihydrorhodamine) |
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Term
| Leukocyte Adhesion Deficiency |
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Definition
Autosomal Recessive
CD18 absent (common Beta chain of beta 2 integrins - LFA1, Mac1, p150.95).
High WBCs but usually not severe immunodeficiency. More prone to skin infections.
Trafficking problem |
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Term
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Definition
Aut Recessive
Clumped Albinism - patches with pigment
neurological abnormalities
Abnormal granules in eos, basos, and neutros due to defect in a lysosomal transporter (LYST). Treat with a BMT. |
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Term
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Definition
Aut Recessive
3 subtypes
Types 1 and 2 - neurological defects
Type 2 HypoGammaglobulinemia, NK defects, and Suppressed DTH (delayed type hypersensitivity) |
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Term
| Myeloperoxidase Deficiency |
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Definition
Aut Recessive
MOST COMMON PHAGOCYTE DISORDER
No disease associated except in diabetics where you see increased bac. infections. No treatment currently. |
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Term
| NK Cell Deficiency (Generalized) |
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Definition
T/B cell defenses overwhelmed
chronic viral infection |
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Term
| Generalized Monocyte/Macrophage Deficiencies |
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Definition
IFN-GammaR Deficiency
IL-12R deficiency
Mycobacterial infectio ns |
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Term
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Definition
Can have problems in any of the 31 proteins associated with complement. All forms of inheritance represented.
C3 def. is the most serious. You're super fucked if you have it. Specfically with PYOGENIC INFECTIONS.
C1,2,4 def related to autoimmunity. C2 specifically with SLE.
MAC defects usually not serious but more susceptible to Neisseria infections - gonna get you some gonorrhea.
C5-C9 deficiencies are associated with meningococcal and gonococcal infections. |
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Term
| Adenosine Deaminase Deficiency leads to ... |
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Definition
| SCID! 25 percent of SCID cases caused by this. |
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Term
| Purine Nucleoside Phosphorylase Deficiency leads to ... |
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Definition
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Term
| Mutations in Receptors for gamma chain of several cytokine receptors (especially IL2 and 4) can lead to ... |
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Definition
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Term
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Definition
| Expansion of trinucleotide repeat in a gene coding for a PTK. |
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